My take-away from the Debra’s PCC in Orlando – Part 3

Before continuing with the blogs about the PCC I wanted to address a question that was presented to me: since Debra has stated that they would post the videos of the conference on their website, why bother doing the blog?
Aside the fact that I would have rather been ‘thanked’ than made me wonder if I am wasting my time, we do not know if Debra will post these videos next week or next year. But even if it’s next week, I also believe that the more ways this information is available the better, and this is what this website is about, INFO. But that’s just my opinion, take it or leave it.

Ok, now, let’s continue. The talks that followed which I will talk about today were about Prenatal Diagnosis of EB and Surgical Management of EB.

Prenatal Diagnosis of Epidermolysis Bullosa

This talk was presented by Dr. Sharon Glick and not surprisingly, I unfortunately did not take any notes, nor took photos of the slides. My apologies. I guess I thought this talk did not apply to me because I am a little too old to be having more children, and I did not learn anything new as well. If there was something new, I wrote it down. HOWEVER, here’s some links to know more about it and my summary of what I know about this topic.

http://www.debra.org/abouteb#prenatal

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2230038/

Basically there is no test to find out if you’re a carrier of EB (for Recessive forms of EB) prior of your child being born with EB. I get this question ALL THE TIME so I want to make sure I reiterate this point. I was told by various doctors that it would be like looking for a needle in a haystack.  Of course for the Dominant forms of EB it’s evident since one of the parents has the condition. Of course there is always that spontaneous mutation which is not inherited, but, I digress.  Determining the type of EB in a particular family member can be achieved through studies of a skin biopsy taken from the affected family member. The skin sample is then sent to a laboratory to confirm the subtype and the DNA mutation(s). This process may take several months, so they always suggest to do this BEFORE trying to get pregnant again. When a pregnancy occurs, DNA taken from the fetus can be studied for the presence of these mutations through CVS or amniocentesis. Preimplantation Genetic Diagnosis (PGD) is done prior to pregnancy, and improves the chances of having an EB free child. PGD is accomplished with in-vitro fertilization.
I wish I knew where to send parents for this PGD, I know of one clinic in New Jersey that does it (New Jersey Fertility Center) but not sure of others. I would suggest to contact the Debra Nurse, she is a wealth of information!  If you know of a clinic that helps EB parents with PGD, please leave a comment below. THANK YOU!

Now… here’s a little about MY particular situation, maybe someone can relate or this info can perhaps help. When Nicky was 9 months old (in the summer of 1997) Stanford took blood samples from him, myself and his dad to find out the genetic mutation. All of that came back inconclusive, Dr. McGuire wrote me a handwritten letter (which I still have, I can’t believe he actually hand wrote a letter just to me!) apologizing and said to try to re-do the test at a later date when technology improved. I was never aware technology improved until THIS PCC. That’s how out of it I have been! I was sitting next to Geri, the Debra Nurse, and she told me to do it now. Of course I would not be doing it for future children of mine but I am curious to find out if my Connor is a carrier or my niece Paola is a carrier. I have other nieces/nephews as well and if I can avoid another RDEB family member and all the pain and suffering associated with it, I will gladly do it. The problem is that I do not know if the insurance will pay for it this time, but maybe they will since the first time it didn’t work? I will certainly try to get a referral.

GeneDx (www.genedx.com) is currently performing genetic analysis for the most common known mutations of many of the forms of EB but it’s pricey, as I am told (around $6,000) and it’s hard to get the insurances to pay for it. Stanford is also doing a Characteristic Study for those that could travel there, and it’s free.

If anyone has anymore important info about this subject, please leave a comment below. THANK YOU!

Here is the video of this presentation, courtesy of Debra:

DNA Q&A Video:

Surgical Management of Epidermolysis Bullosa

Dr. Peter J. Stern did this talk about Hand surgeries for patients with RDEB. A lot of the slides were VERY graphic so I did not take photos of those-they were just hard to watch, even for me who has seen it with my own two eyes. Sigh.
First he went through the terminology, which includes words such as “non-pliable skin”, “pseudosyndactyly”, “thumb adduction”, “digital flexion contractures”, “acral osteolysys”, this last one meaning the dissolution of bone/nails.

He states, like the slide explains, that his Primary Goal with hand surgeries, depending on the level of deformity, is to make sure the patient can pinch and grasp things. Being able to pick up a pen and write for example, is a big issue. His secondary goals include releasing pseudosyndactyly to get the fingers in a more straight or at least curved mode rather than a fist so they may have some use of it.

He stated that he uses skin grafts for his hand surgeries, taken from another part of the body, and talked about the importance of pain medication and wound dressing/splints etcetera, making sure the wrist can rest in a neutral mode.

Now, here’s my 2c for whatever they are worth and what has worked for my son and my observations… this may or may not be what works for other RDEB patients, but it is what has worked for Nicky:

The first thing I wished I had known when Nicky was little was that the hand was not only going to web/mitten from wounds healing wrong, but ALSO from the thick scaly skin that eventually would become so tough that it would close the hand in a cocoon. This is why, in my view, Nicky’s hands mitten so fast without bandaging, the thick scaly skin does not grow and gets tougher by the day.
The bandaging instructions-complete with videos- are linked below, but I do something more to prevent the skin to get tougher which for my son is KEY: I wrap each finger with Vaseline Gauze, which lately I coat with various oils that soften the skin even more, such as Coconut Oil, Vitamin E, and I am now trying this Argan Oil, all soften the skin even more. I also SOAK his hand in these oils before rewrapping them. My goal for Nicky is to make these hand surgeries as RARE as possible by preventing the skin to get that bad to begin with. My post with post-surgery pics from earlier this year is here. Note that I was able to prevent a repeat surgery on that hand for 12 years while keeping the mobility of the hand this way, and Nicky would not have it any other way.

Dr. Ladd from Stanford, which is Nicky’s hand surgeon, does not uses skin grafts, but does uses the pins like Dr. Stern showed, and a cast. She cast the hand in a splint, well bandaged, and takes it off 2 weeks later. We were very happy with the results, but knew first-hand that it would take at least 6-8 weeks for the hand to completely heal  and that we had to make sure to wrap it with the appropriate tension to keep the improvements achieved by the surgery. 8 weeks later we started the weekly physical therapy and Nicky uses a nightly splint to keep the thumb out and the palm open. He is so happy with the surgery that he now wants to do the other hand, which was operated on 10 years ago.  The only problem with that hand is that the pinky has now ‘disappeared’ in the hand and the thumb is almost unusable due to the webbing. The other 3 fingers though are GREAT! All thanks to the wrapping, no doubt. Now with the addition of the oils and splints I know I can make a big difference and keep the hands from webbing even longer.

Here is the video of this presentation, courtesy of Debra:

Here’s the presentation about hand surgeries done at the 2010 Conference:

GO TO PART 4 NOW –>>

Links to — > Part 1Part 2

Mom to 3 boys, 1 in heaven, 2 on earth. My first son Alex (whose demise is most likely EB related) was stillborn at full term. After a miscarriage, I had my second son Nicky, who has the Recessive Dystrophic form of Epidermolysis Bullosa. My youngest son, Connor, is 100% healthy, and I never, ever take it for granted. I am an author, photographer, graphic artist, webmaster, blogger and more.

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Hand Surgeries

By Grammy Shirley

December 23, 2002

This is information regarding Jennifer Deprizio’s many hand surgeries.

Before Jennifer came to live with me in 1997, she had been through many hand surgeries to open the digits and to keep her hands from mittening.

Jennifer’s hand before surgery

None of them worked and the reason for this is lack of care. Lack of constantly using the braces and/or splints that Dr. Dell and the therapist made for her, to keep the skin from growing together and the webbing and mittening.

At this time in Jenn’s life the braces/splints were rather crude and they were harder than now. Now they are made of “Odoform” and other softer substances.

Odoform is like putty, which is shaped to the hand during surgery, and remains soft, but firm.

When Jennifer came with me in 1997 both hands were webbed and mittened. She had “pinchers” so that did enable her to use her hands a bit, but not much. Jennifer had her first hand surgery while with me in June 1998. Dr. Dell at Shands Hospital in Gainesville, Fl. did this as an outpatient. She had gas anesthesia. Jennifer did not have to be intubated as she was always going to be lying on her back. They put an excessive amount of Vaseline on her face so the mask would not disrupt the skin. It worked very well.

Jennifer’s hand after surgery

We stayed in Gainesville in a motel for a week, as Dr. Dell needed to change her bandages every day and check to see if the brace was in place. We live about three hours from Shands. Jennifer was uncomfortable when I brought her back to our room, but was still under the effects of the anesthesia and pain medication, so slept until we had to go back the next day. The bandages did drain a lot and that is normal. That is why the bandage needs to be changed every day for a while, also to watch for infection. Jenn was on a strong antibiotic to guard against infection.

Dr. Dell and Ruth, the therapist, made a brace/splint to fit Jenn’s hand while she was under so as to keep the digits separated and to stretch the hand. They also put “pins” in her fingers with a top to circle the pins, so to keep her fingers apart and straight. It took about three weeks before the pins could come out. Dr. Dell did this in his office. It was a little painful, but they gave her a bit of sedative while doing this. Sometimes the pins want to come out by themselves, and this is good.

Then Jennifer began therapy to measure, stretch and work the fingers and hand. This took about two months. The total healing time was approximately three months. Once the pins were out it healed fast. Jennifer wore her brace made of Odoform day and night.

During therapy they would make a new brace to fit her healing ever changing hand. We wrapped the ABC wrap and put the brace over the wrap. It works wonders and we still do it.

Jennifer’s hand after surgery, wearing her class ring!

Some people do not want to use the ABC Wrap but we firmly believe in it. All EBers are different so it may not be for them. Jennifer had all of the ordinary complaints; i.e., it hurts, it’s uncomfortable, it isn’t working, I don’t like it, but I persisted. Now, she hasn’t worn the brace in the last six months, unless her hand is tired or hurts for some reason, but we still do the ABC wrap and Jennifer actually wraps her hands herself since we have had the right hand done.

The right hand was done in May 2002 at Shands with Dr. Dell. Instead of gas anesthesia this time they gave her a block of the arm and Jennifer was awake and watched most of the surgery. Wow!! Dr. Dell thought the fingers were atrophied into place. This would have meant extensive surgery with the ligaments, etc. When he de-gloved Jenn’s hand, the fingers just uncurled one by one and Jennifer was so excited she just shouted, my hand, my beautiful hand.

Dr. Dell followed the same procedures as the left hand, pins, brace, etc. and we stayed at the motel for approximately four days. Again Jenn slept through the most painful part, was on pain medicine and antibiotics. This surgery healed much faster as the hand was not as bad as the left hand. Jennifer only had to wear the brace on her right hand for about three weeks, but we did the ABC wrap about one week after the surgery, and then put the brace on. She only needed about two weeks of therapy, as she knew she had to exercise those fingers, and she did. It is all in helping yourself heal.

Jennifer with Dr. Dell

The EBer MUST do what is necessary or the procedure may not work, or it may not work as well. With the experiences of Jennifer’s hand surgeries, I am convinced the child should be old enough to follow directions, and be willing to go through the steps to help them heal and have a workable hand. As you can see by the pictures, Jennifer hand does not look like mine, or yours without EB, but it is very functional and she can do anything she wants with them.

Jennifer is a sophomore at Brevard Community College (BCC) and is majoring in WebDesign/Desktop Publishing. Her fingers fly on the keyboard and her speed is up to 60 words per minute and gaining. She is an accurate typist and does not look at her fingers while typing – well, most of the time :-). She wears her school ring on her finger on her right hand. Something she has wanted to do since she graduated from high school… She wears other rings also.

It has been since 1998 since the first surgery and her left and right hand look wonderful. Jennifer is a trouper.

Grammy Shirley

P.S. If you are going to use the ABC wrap after surgery, never put the 1″ gauze against the fingers without using lubricated Vaseline gauze. It will stick to the fingers and pull the skin away, causing more webbing. I do not mean the insult intelligence; just want to make sure you are aware of this…